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| Genetic Epilepsy v0.1575 | BSCL2 |
Zornitza Stark changed review comment from: Bi-allelic variants: multiple families reported with syndromic lipodystrophy including EE. Mono-allelic variants: Two families reported with de novo variants in PMIDs 31369919 and 35290466. We are aware of further three individuals identified as a result of clinical testing, so a total of 4 with a change at position p.Pro149; to: Bi-allelic variants: multiple families reported with syndromic lipodystrophy including EE. Mono-allelic variants: Two families reported with de novo variants in PMIDs 31369919 and 35290466. We are aware of further three individuals identified as a result of clinical testing, so a total of 4 with a change at position p.Pro149 |
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| Genetic Epilepsy v0.1575 | BSCL2 | Zornitza Stark Marked gene: BSCL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1575 | BSCL2 | Zornitza Stark Gene: bscl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1575 | BSCL2 | Zornitza Stark Phenotypes for gene: BSCL2 were changed from to Encephalopathy, progressive, with or without lipodystrophy, MIM#615924; Developmental and epileptic encephalopathy, BSCL2-related, dominant, MONDO:0100062 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1574 | BSCL2 | Zornitza Stark Publications for gene: BSCL2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1573 | BSCL2 | Zornitza Stark Mode of inheritance for gene: BSCL2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1572 | BSCL2 | Zornitza Stark reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11479539, 15181077, 15126564, 23564749, 31369919, 35290466; Phenotypes: Encephalopathy, progressive, with or without lipodystrophy, MIM#615924, Developmental and epileptic encephalopathy, BSCL2-related, dominant, MONDO:0100062; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.0 | BSCL2 |
Zornitza Stark gene: BSCL2 was added gene: BSCL2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BSCL2 was set to Unknown |
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